Shared decision making in rare diseases: an overview
Abstract
Patients with rare diseases often face difficulties in clinical care due to the low prevalence of their diseases and the resulting healthcare providers´ lack of expertise. Valid and standardized guidelines for clinical management are also lacking due to the scarcity of research and the variability of the clinical expressivity within each disease. Clinical decision-making in an uncertainty context should take advantage of involving patients in deeper informational process to promote valid shared decision-making between patients/caregivers and healthcare professionals. This process of patient/caregiver empowerment is a priority in the context of rare diseases, as it encourages acquisition of information that will help improving patient-healthcare professional’s interaction, and building a collaborative relationship. It is also a chance for healthcare professionals to learn about rare diseases from the perspective of patients.
The aim of this article is to conduct an overview of existing studies focused on promoting patients/caregivers empowerment and shared decision-making (using or not decision aids) in the area of rare diseases.
Keywords
Full Text:
PDFReferences
Taruscio D, Gentile AE, Evangelista T, Frazzica RG, Bushby K, Montserrat AM. Centres of Expertise and European Reference Networks: key issues in the field of rare diseases. The EUCERD Recommendations. Blood Transfusion. 2014; 12(3):s621–5. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4044812/
Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europes’ Challenges, (2009/C 151/02). Available from: http://ec.europa.eu/health/rare_diseases/docs/2014_rarediseases_implementationreport_en.pdf
Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, et al. Clinical research for rare disease: opportunities, challenges, and solutions. Molecular Genetics and Metabolism. 2009;96(1):20–6. doi: 10.1016/j.ymgme.2008.10.003
Gagne J, Thompson L, O’Keefe K, Kesselheim A. Innovative research methods for studying treatments for rare diseases: methodological review. British Medical Journal. 2014;349:g6802. doi: http://dx.doi.org/10.1136/bmj.g6802
Légaré F, Ratté S, Gravel K, Graham ID. Barriers and facilitators to implementing shared decision-making in clinical practice: update of a systematic review of health professionals’ perceptions. Patient Education & Counseling. 2008;73(3):526–35. doi: 10.1016/j.pec.2008.07.018.
Faurisson F. Survey of the delay in diagnosis for 8 rare diseases in Europe: EurordisCare2. Available from: http://www.eurordis.org/IMG/pdf/Fact_Sheet_Eurordiscare2.pdf
Weston WW. Informed and shared decision-making: The crux of patient-centred care. Canadian Medical Association Journal. 2001;165(4):438-9. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC81370/
Taruscio D, Morciano C, Laricchiuta P, Mincarone P, Palazzo F, Leo CG, et al. RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases. Rare Disease and Orphan Drugs An International Journal of Public Health. 2014; 1(1): 5-8. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4249596/
Hilton-Boon M, Ritchie K, Manson J, Taruscio D, Auld J, Uk J, et al. Improving the retrieval and dissemination of rare disease guidelines and research recommendations: a RARE-Bestpractices initiative European Organisation for Rare Diseases France Juliette Senecat EURORDIS, European Organisation for Rare Diseases France. Rare Disease and Orphan Drugs An International Journal of Public Health. 2014; 1(1):20-9. Available from: http://rarejournal.org/rarejournal/article/view/33
Sejersen T, Giovane C Del, Filippini G, Leo CG, Meerpohl JJ, Mincarone P, et al. Methodology for production of best practice guidelines for rare diseases Brief title: Methodology for guideline production European Organisation for Rare Diseases France Juliette Senecat EURORDIS, European Organisation for Rare Diseases France. Rare Disease and Orphan Drugs An International Journal of Public Health. 2014;1(1):10-9.
Marcus AD. Patients with rare diseases work to jump-start research; advocacy groups create their own tissue banks to aid in drug treatment. The Wall Street Journal (East Ed). 2006; 11:D1, D2. Available from: http://www.wsj.com/articles/SB115257685637802872
Barr PJ, Scholl I, Bravo P, Faber MJ, Elwyn G, McAllister M. Assessment of Patient Empowerment - A Systematic Review of Measures. PLoS ONE. 2015 10(5): e0126553. doi: 10.1371/journal.pone.0126553
Bravo P, Edwards A, Barr PJ, Scholl I, Elwyn G, McAllister M and the Cochrane Healthcare Quality Research Group, Cardiff University. Conceptualising patient empowerment: a mixed methods study. BMC Health Services Research. 2015; 15:252. http://www.biomedcentral.com/1472-6963/15/252
Linertová R, Serrano-Aguilar P, Posada-de-la-Paz M, Hens-Pérez M, Kanavos P, Taruscio D, et al. Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study. Health Policy. 2012;108 (1):19–26. doi: 10.1016/j.healthpol.2012.08.001.
Serrano-Aguilar P, Trujillo-Martin MDM, Pérez de la Rosa A, Cuellar-Pompa L, Saavedra-Medina H, Linertova R, et al. Patient participation in a Clinical Guideline Development for Systemic Lupus Erythematosus. Patient Education & Counseling. 2015; 98(9): 1156-63. doi: http://dx.doi.org/10.1016/j.pec.2015.05.022
Serrano-Aguilar P, Trujillo-Martín MM, Ramos-Goñi JM, Mahtani-Chugani V, Perestelo-Pérez L, Posada-de la Paz M. Patient involvement in health research: A contribution to a systematic review on the effectiveness of treatments for degenerative ataxias. Social Science & Medicine. 2009;69(6):920–5. doi: 10.1016/j.socscimed.2009.07.005.
Caron-Flinterman JF, Broerse JE, Bunders JF. The experiential knowledge of patients: a new resource for biomedical research? Social Science & Medicine. 2005; 60, 2575–84. http://www.ncbi.nlm.nih.gov/pubmed/15814182
Crawford MJ, Rutter D, Manley C, Weaver T, Bhui K, Fulop N, et al. Systematic review of involving patients in the planning and development of health care. British Medical Journal. 2002; 325, 1263–67. http://www.ncbi.nlm.nih.gov/pubmed/12458240
Salzburg statement on shared decision making. British Medical Journal. 2011;342:d1745. doi: http://dx.doi.org/10.1136/bmj.d1745
Braddock CH. The emerging importance and relevance of shared decision making to clinical practice. Medical Decision Making. 2010;30(5):5S – 7S. doi: 10.1177/0272989X10381344.
Gafni A, Charles C, Whelan T. The physician-patient encounter: the physician as a perfect agent for the patient versus the informed treatment decision-making model. Social Science & Medicine. 1998;47(3):347–54.
Joseph-Williams N, Elwyn G, Edwards A. Knowledge is not power for patients: A systematic review and thematic synthesis of patient-reported barriers and facilitators to shared decision making. Patient Education and Counseling. 2014;94(3):291–309. Available from: doi: 10.1016/j.pec.2013.10.031.
Charles C, Gafni A, Whelan T. Decision-making in the physician-patient encounter: revisiting the shared treatment decision-making model. Social Science & Medicine. 1999; 49(5), 651–661. http://www.ncbi.nlm.nih.gov/pubmed/10452420
Coulter A, Stilwell D, Kryworuchko J, Mullen PD, Jenn C, van der Weijden T. A systematic development process for patient decision aids. BMC Medical Informatics Decision Making. 2013;13 Suppl 2:S2. doi: 10.1186/1472-6947-13-S2-S2.
Stacey D, Légaré F, Col NF, Bennett CL, Barry MJ, Eden KB, Holmes-Rovner M, Llewellyn-Thomas H, Lyddiatt A, Thomson R, Trevena L, Wu JHC. Decision aids for people facing health treatment or screening decisions. Cochrane Database Systematic Reviews. 2014; 1: CD001431. Available from: http://onlinelibrary.wiley.com/doi/10.1002/14651858.CD001431/abstract;jsessionid=B7B4B25864312A510DC3749B0BCFA651.f02t03
Elwyn G, Frosch D, Rollnick S. Dual equipoise shared decision making: definitions for decision and behaviour support interventions. Implementation Science. 2009;4:75. doi:10.1186/1748-5908-4-75
Elwyn G, O’Connor A, Stacey D, Volk R, Edwards A, Coulter A, et al. Developing a quality criteria framework for patient decision aids: online international Delphi consensus process. British Medical Journal. 2006;333:417. doi: http://dx.doi.org/10.1136/bmj.38926.629329.AE
Sepucha K, Borkhoff C, Lally J, Levin C, Matlock D, Jenn C, et al. Establishing the effectiveness of patient decision aids: key constructs and measurement instruments. BMC Medical Informatics and Decision Making. 2013; 13(Suppl 2):S12. doi:10.1186/1472-6947-13-S2-S12
Hossler C, Levi BH, Simmons Z, Green MJ. Advance care planning for patients with ALS: feasibility of an interactive computer program. Amyotrophic Lateral Sclerosis. 2011;12(3):172–7. doi: 10.3109/17482968.2010.509865.
De Abreu MM, Gafni A, Ferraz MB. The use of a decision board to elicit Brazilian patients’ and physicians' preferences for treatment: the case of lupus nephritis. Value Health. 2011;14(5):S141–6. doi: 10.1016/j.jval.2011.05.015.
Yazdany J, Feldman CH, Liu J, Ward MM, Fischer MA, Costenbader KH. Quality of care for incident lupus nephritis among Medicaid beneficiaries in the United States. Arthritis Care & Research (Hoboken). 2014; 66(4):617–24. doi: 10.1002/acr.22182.
Hannemann-Weber H, Kessel M, Budych K, Schultz C. Shared communication processes within healthcare teams for rare diseases and their influence on healthcare professionals’ innovative behavior and patient satisfaction. Implementation Science. 2011;6:40. doi: 10.1186/1748-5908-6-40.
Budych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interaction. Health Policy. 2012;105(2-3):154–64. doi: http://dx.doi.org/10.1016/j.healthpol.2012.02.018
Grut L, Kvam MH. Facing ignorance: people with rare disorders and their experiences with public health and welfare services. Scandinavian Journal Disability Research. 2012;15(1)–20-32. doi:10.1080/15017419.2011.645870
Hughes RA, Sinha A, Higginson I, Down K, Leigh PN. Living with motor neurone disease: Lives, experiences of services and suggestions for change. Health & Social Care in Community. 2005;13(1):64–74. doi: 10.1111/j.1365-2524.2005.00530.x
Gruis KL, Wren PA, Huggins JE. Amyotrophic lateral sclerosis patients’ self-reported satisfaction with assistive technology. Muscle & Nerve. 2011;43(5):643–7. doi: 10.1002/mus.21951.
Foley G, Timonen V, Hardiman O. Patients’ perceptions of services and preferences for care in amyotrophic lateral sclerosis: a review. Amyotrophic Lateral Sclerosis. 2012;13(1):11–24. doi: 10.3109/17482968.2011.607500.
Foley G, Timonen V, Hardiman O. Acceptance and decision making in amyotrophic lateral sclerosis from a life-course perspective. Qualitative Health Research. 2014;24(1):67–77. doi: 10.1177/1049732313516545.
Charon R. Narrative Medicine: a model for empathy, reflection, profession, and trust. Journal of the American Medical Association. 2001;286(15):1897–902. Available from: http://jama.jamanetwork.com/article.aspx?articleid=194300
Garrino L, Picco E, Finiguerra I, Rossi D, Simone P, Roccatello D. Living with and treating rare diseases: experiences of patients and professional health care providers. Qualitative Health Research. 2015;25(5):636–51. doi: 10.1177/1049732315570116
Dwyer AA, Quinton R, Morin D, Pitteloud N. Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support. Orphanet Journal of Rare Diseases. 2014;9:83. doi: 10.1186/1750-1172-9-83.
